BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 11952552)

  • 21. Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.
    Schepis C; Siragusa M; Centofanti A; Vinci M; Calì F
    Dermatol Online J; 2019 Jul; 25(7):. PubMed ID: 31450277
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [A lethal variant of Netherton syndrome in a large inbred family].
    Capri Y; Vanlieferinghen P; Boeuf B; Dechelotte P; Hovnanian A; Lecomte B
    Arch Pediatr; 2011 Mar; 18(3):294-8. PubMed ID: 21255986
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI.
    Xi-Bao Z; San-Quan Z; Yu-Qing H; Yu-Wu L; Quan L; Chang-Xing L
    Indian J Dermatol; 2012 Jul; 57(4):265-8. PubMed ID: 22837558
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.
    Kilic G; Guler N; Ones U; Tamay Z; Guzel P
    Eur J Pediatr; 2006 Sep; 165(9):594-7. PubMed ID: 16670861
    [TBL] [Abstract][Full Text] [Related]  

  • 25. LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance.
    Mägert HJ; Kreutzmann P; Ständker L; Walden M; Drögemüller K; Forssmann WG
    Int J Biochem Cell Biol; 2002 Jun; 34(6):573-6. PubMed ID: 11943586
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Netherton syndrome: mutation analysis of two Taiwanese families.
    Lin SP; Huang SY; Tu ME; Wu YH; Lin CY; Lin HY; Lee-Chen GJ
    Arch Dermatol Res; 2007 Jun; 299(3):145-50. PubMed ID: 17415575
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Netherton syndrome: A neonatal case with respiratory insufficiency.
    Okulu E; Tunc G; Erdeve O; Mumcu Y; Atasay B; Ince E; Arsan S
    Arch Argent Pediatr; 2018 Aug; 116(4):e609-e611. PubMed ID: 30016041
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
    Geyer AS; Ratajczak P; Pol-Rodriguez M; Millar WS; Garzon M; Richard G
    Dermatology; 2005; 210(4):308-14. PubMed ID: 15942217
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.
    Hamza N; Al Sukaiti N; Ahmed KAM; Romano R; Gokhale UA; Pan-Hammarström Q
    Sultan Qaboos Univ Med J; 2021 Nov; 21(4):652-656. PubMed ID: 34888090
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
    Raghunath M; Tontsidou L; Oji V; Aufenvenne K; Schürmeyer-Horst F; Jayakumar A; Ständer H; Smolle J; Clayman GL; Traupe H
    J Invest Dermatol; 2004 Sep; 123(3):474-83. PubMed ID: 15304086
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Netherton Syndrome: A Genotype-Phenotype Review.
    Sarri CA; Roussaki-Schulze A; Vasilopoulos Y; Zafiriou E; Patsatsi A; Stamatis C; Gidarokosta P; Sotiriadis D; Sarafidou T; Mamuris Z
    Mol Diagn Ther; 2017 Apr; 21(2):137-152. PubMed ID: 27905021
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Netherton syndrome: a case report and review of the literature.
    Sun JD; Linden KG
    Int J Dermatol; 2006 Jun; 45(6):693-7. PubMed ID: 16796630
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
    Chavanas S; Bodemer C; Rochat A; Hamel-Teillac D; Ali M; Irvine AD; Bonafé JL; Wilkinson J; Taïeb A; Barrandon Y; Harper JI; de Prost Y; Hovnanian A
    Nat Genet; 2000 Jun; 25(2):141-2. PubMed ID: 10835624
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.
    Hausser I; Anton-Lamprecht I
    Pediatr Dermatol; 1996; 13(3):183-99. PubMed ID: 8806118
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.
    Jain SP; Jain PA; Pandey N
    J Clin Diagn Res; 2016 Apr; 10(4):WD01-2. PubMed ID: 27190931
    [TBL] [Abstract][Full Text] [Related]  

  • 36. SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing.
    Tartaglia-Polcini A; Bonnart C; Micheloni A; Cianfarani F; Andrè A; Zambruno G; Hovnanian A; D'Alessio M
    J Invest Dermatol; 2006 Feb; 126(2):315-24. PubMed ID: 16374478
    [TBL] [Abstract][Full Text] [Related]  

  • 37. An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.
    Macknet CA; Morkos A; Job L; Garberoglio MC; Clark RD; Macknet KD; Peverini RL
    Pediatr Dermatol; 2008; 25(3):368-72. PubMed ID: 18577046
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.
    Di WL; Hennekam RC; Callard RE; Harper JI
    Br J Dermatol; 2009 Aug; 161(2):404-12. PubMed ID: 19438860
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
    Komatsu N; Saijoh K; Jayakumar A; Clayman GL; Tohyama M; Suga Y; Mizuno Y; Tsukamoto K; Taniuchi K; Takehara K; Diamandis EP
    J Invest Dermatol; 2008 May; 128(5):1148-59. PubMed ID: 17989726
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
    Konishi T; Tsuda T; Sakaguchi Y; Imai Y; Ito T; Hirota S; Yamanishi K
    J Dermatol; 2014 Mar; 41(3):258-61. PubMed ID: 24506793
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.